{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,29]],"date-time":"2026-01-29T13:32:34Z","timestamp":1769693554347,"version":"3.49.0"},"reference-count":20,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2016,8,17]],"date-time":"2016-08-17T00:00:00Z","timestamp":1471392000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004919","name":"King Abdulaziz City for Science and Technology","doi-asserted-by":"publisher","award":["APR\u201034\u201013"],"award-info":[{"award-number":["APR\u201034\u201013"]}],"id":[{"id":"10.13039\/501100004919","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000092","name":"Ontario Genomics Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000092","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008762","name":"Genome Canada","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000196","name":"Canada Foundation for Innovation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000196","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2016,11]]},"abstract":"<jats:sec><jats:label\/><jats:p>We describe two brothers from a consanguineous family of Egyptian ancestry, presenting with microcephaly, apparent global developmental delay, seizures, spasticity, congenital blindness, and multiple cutaneous capillary malformations. Through exome sequencing, we uncovered a homozygous missense variant in <jats:italic>STAMBP<\/jats:italic> (p.K303R) in the two siblings, inherited from heterozygous carrier parents. Mutations in <jats:italic>STAMBP<\/jats:italic> are known to cause microcephaly\u2010capillary malformation syndrome (MIC\u2010CAP) and the phenotype in this family is consistent with this diagnosis. We compared the findings in the present brothers with those of earlier reported patients. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37845","type":"journal-article","created":{"date-parts":[[2016,8,17]],"date-time":"2016-08-17T10:54:21Z","timestamp":1471431261000},"page":"3018-3022","source":"Crossref","is-referenced-by-count":16,"title":["Microcephaly\u2010capillary malformation syndrome: Brothers with a homozygous <i>STAMBP<\/i> mutation, uncovered by exome sequencing"],"prefix":"10.1002","volume":"170","author":[{"given":"Muhammad Imran","family":"Naseer","sequence":"first","affiliation":[{"name":"Center of Excellence in Genomic Medicine Research King Abdulaziz University Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sameera","family":"Sogaty","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics King Fahad General Hospital Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mahmood","family":"Rasool","sequence":"additional","affiliation":[{"name":"Center of Excellence in Genomic Medicine Research King Abdulaziz University Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Adeel G.","family":"Chaudhary","sequence":"additional","affiliation":[{"name":"Center of Excellence in Genomic Medicine Research King Abdulaziz University Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yousif Ahmed","family":"Abutalib","sequence":"additional","affiliation":[{"name":"Maternity and Children Hospital Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Susan","family":"Walker","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian R.","family":"Marshall","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniele","family":"Merico","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa T.","family":"Carter","sequence":"additional","affiliation":[{"name":"Department of Genetics The Children's Hospital of Eastern Ontario Ottawa Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen W.","family":"Scherer","sequence":"additional","affiliation":[{"name":"Center of Excellence in Genomic Medicine Research King Abdulaziz University Jeddah Saudi Arabia"},{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Ontario Canada"},{"name":"McLaughlin Centre and Department of Molecular Genetics University of Toronto Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohammad H.","family":"Al\u2010Qahtani","sequence":"additional","affiliation":[{"name":"Center of Excellence in Genomic Medicine Research King Abdulaziz University Jeddah Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mehdi","family":"Zarrei","sequence":"additional","affiliation":[{"name":"The Centre for Applied Genomics The Hospital for Sick Children Toronto Ontario Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,8,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1755-8794-8-S1-S3"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1021\/acs.biochem.5b00631"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34149"},{"key":"e_1_2_8_5_1","volume-title":"Microcephaly\u2010capillary malformation syndrome","author":"Carter MT","year":"2013"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33841"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.9.1351"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1086\/379793"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36782"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11632"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nm.3930"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34048"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp324"},{"key":"e_1_2_8_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2602"},{"key":"e_1_2_8_15_1","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_2_8_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.34118"},{"key":"e_1_2_8_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms8949"},{"key":"e_1_2_8_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2014.07.006"},{"key":"e_1_2_8_19_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1852"},{"key":"e_1_2_8_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22431"},{"key":"e_1_2_8_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg3871"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37845","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37845","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37845","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T03:13:37Z","timestamp":1696648417000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37845"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,8,17]]},"references-count":20,"journal-issue":{"issue":"11","published-print":{"date-parts":[[2016,11]]}},"alternative-id":["10.1002\/ajmg.a.37845"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37845","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,8,17]]}}}